Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000611583 | SCV000710904 | likely pathogenic | Marfan syndrome | 2016-06-22 | criteria provided, single submitter | clinical testing | The p.Cys2500Ser variant in FBN1 has been reported in one individual with clinic al features of Marfan syndrome (Ng 2002) and was absent from large population st udies. Computational prediction tools and conservation analysis suggest that thi s variant may impact the protein, though this information is not predictive enou gh to determine pathogenicity. Furthermore, this variant affects a conserved cys teine residue in the EGF-like domain, which is a common finding in individuals w ith Marfan syndrome (Schrijver 1999). In summary, although additional studies ar e required to fully establish its clinical significance, the p.Cys2500Ser varian t is likely pathogenic. |
| Fulgent Genetics, |
RCV002498882 | SCV002811037 | likely pathogenic | Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome | 2021-07-07 | criteria provided, single submitter | clinical testing |